Living with Familial dysautonomia
A genetic nerve condition affecting involuntary body functions like digestion and blood pressure, plus pain and temperature sensing.
Understanding Familial dysautonomia
It affects the autonomic nervous system, which controls involuntary actions like digestion, breathing, tears, blood pressure, and body temperature. It also affects the sensory nerves, which control things like taste and sensing pain and temperature. Problems begin in infancy. It is also called hereditary sensory and autonomic neuropathy, type III.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone and feeding difficulties in infancy
- No tears (alacrima)
- Frequent lung infections
- Blood pressure that drops on standing or spikes
- Reduced sense of pain and temperature
- Curved spine (scoliosis) and fragile bones
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ELP1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Dysautonomia International and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Dysautonomia International, The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Dysautonomia International and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ELP1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: dominant hereditary sensory neuropathy, type iii; dysautonomia, familial; fd; hereditary sensory and autonomic neuropathy 3; hereditary sensory and autonomic neuropathy type 3; hereditary sensory and autonomic neuropathy type iii
Patient organizations
- Dysautonomia InternationalFamilial dysautonomia · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial dysautonomia.
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